{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350399166",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414094[alleleid]",
        "alleleId": 414094,
        "preferredName": "NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425706",
        "RCV": [
          "RCV000488460"
        ],
        "variationId": 425706
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203329580A>G?assembly=hg19",
        "id": "chr2:g.203329580A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202464857A>G?assembly=hg38",
        "id": "chr2:g.202464857A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307167",
        "rs": 1085307167
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 202464857,
          "referenceAllele": "A",
          "start": 202464856
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202464857A>G",
        "CM000664.2:g.202464857A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203329580,
          "referenceAllele": "A",
          "start": 203329579
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203329580A>G",
        "CM000664.1:g.203329580A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203037825,
          "referenceAllele": "A",
          "start": 203037824
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203037825A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93531,
          "referenceAllele": "A",
          "start": 93530
        }
      ],
      "hgvs": [
        "NG_009363.1:g.93531A>G",
        "LRG_712:g.93531A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gln42Arg",
        "hgvsWellDefined": "ENSP00000363708.4:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.125A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.125A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gln42Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gln42Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50,
          "referenceAllele": "A",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.50A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Gln17Arg",
        "hgvsWellDefined": "ENSP00000491062.1:p.Gln17Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "A",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Gln42Arg",
        "hgvsWellDefined": "ENSP00000363702.2:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "A",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gln42Arg",
        "hgvsWellDefined": "ENSP00000363708.4:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "referenceAllele": "A",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000479069.1:n.32A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438320",
      "coordinates": [
        {
          "allele": "G",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.125A>G",
        "LRG_712t1:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gln42Arg",
        "hgvsWellDefined": "NP_001195.2:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Gln42Arg",
        "hgvsWellDefined": "XP_011509989.1:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Gln42Arg",
        "hgvsWellDefined": "XP_011509990.1:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438320",
      "coordinates": [
        {
          "allele": "G",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.125A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gln42Arg",
        "hgvsWellDefined": "NP_001195.2:p.Gln42Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.125A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.125A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gln42Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gln42Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}